1 Regional Genetics Service, A Floor, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB, Northern Ireland 2 Department of Medical Genetics, The Queen's University of Belfast, Lisburn Road, ...

2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...

Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating ...

2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...

Correspondence to Dr Norbert Weiss, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha 166 10, Czech Republic; weiss{at}uochb.cas.cz; Dr Gerald W Zamponi, Department of ...

Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be If you wish to ...

Department of Internal Medicine and Department of Neurosurgery, University of Texas Health Science Center at Houston, Texas, USA If you wish to reuse any or all of ...

1 Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, Netherlands 2 The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University ...

Background Approximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to ...

1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...